diagnosis process

[Newbieonetwo]

Hi All. I’m new and in process of tests with my GP in Iowa USA. I’ve been having SOB and faint feeling for several months. I sleep a lot. I have chest pain and because of dystonia a lot of upper body spasms.

In June my Hematocrit was 51.3 and has never been that high, but High normal range in past. My T3 was high first time also.(just ignored by dr as others thyroid labs normal)

GP ordered nocturnal oxygen which was pretty normal. I do have apnea but overall it was 92% for the total. Had pulmonary function test that showed restrictive breathing volume and I have consult in Nov.

Today my JAK2 test posted on mychart it is negative.

My question is what in your experience is next? Does the negative JAK2 mean my doctor will just say I’m fine or what might be the best next step? I am very proactive and assertive. It’s just so rare and confusing I want to be sure all bases are covered as I’m not dealing with a specialist. Just my general practitioner internist. TIA!

[Lappool]

has your doctor tested your EPO levels?

[Newbieonetwo]

not yet. Just the JAK2 and normal annual cbc type blood tests. She is looking for PCV I was told.

[Lappool in reply to Newbieonetwo]

have your doctor check your EPO levels which can confirm whether you have PV or not despite your JAK2 negative test. People with PV usually have a low EPO or low normal EPO around (4-5).

[Newbieonetwo in reply to Lappool]

Thank you. oh I forgot to mention my platelets are low at 140. Not terribly low. That tends to run low for some reason.

[Lappool in reply to Newbieonetwo]

that’s a good sign that your platelets are not raised. Most people with JAK2 positive have raised platelets as well

[Newbieonetwo]

update. Dr is referring me to hematology. I am not asking her for EPO I think it’s best someone else take over work up for this.

[Lappool in reply to Newbieonetwo]

let us know what you learn

[Newbieonetwo]

hematologist looked at my blood work and said it was secondary to breathing issues. My doctor had ordered a pulmonary function and over night oxygen and said they were normal even thought pulmonary showed restrictive breathing volume and recommended a consult with pulmonary Which is scheduled. She then ordered the JAK2 which was negative. I’m so confused.

[hunter5582]

What you are describing sounds like some form of secondary polycythemia. Over 95% of people with PV have the JAK2v617f mutatiuon. A small percentage have the JAK2 Exon 12 mutation. A minuscule number have the CALR mutation. About 3% are PV triple-negative. This can be confirmed by a Bone marrow Biopsy.

It sounds like you are on the right path with consultation with pulmonology. The answer may lie with the breathing issues. It would be reasonable to consider consultation with a MPN Specialist if a clear answer is not forthcoming. There are none in Iowa but there are options in the surrounding states. mpnforum.com/list-hem./

Wishing you success in getting to the cause of what is going on.